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Generalized pseudohypoaldosteronism type 1
1 OMIM reference -
3 associated genes
11 connected diseases
No signs/symptoms info
Disease Type of connection
Idiopathic bronchiectasis
Liddle syndrome
Cystic fibrosis
Syndromic multisystem autoimmune disease due to Itch deficiency
MMEP syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Congenital lethal myopathy, Compton-North type
Distal 22q11.2 microdeletion syndrome
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Synonym(s):
- Autosomal recessive pseudohypoaldosteronism type 1
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SCNN1A P37088600228
SCNN1B P51168600760
SCNN1G P51170600761
No signs/symptoms info available.